ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn)

dbSNP: rs768054802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806779 SCV000946796 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-10-16 criteria provided, single submitter clinical testing
GeneDx RCV001759544 SCV002006636 uncertain significance not provided 2019-03-29 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002501086 SCV002782186 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2021-12-03 criteria provided, single submitter clinical testing

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